Ext1 exostosin glycosyltransferase 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 299907, updated on 5-Mar-2024

Summary

Official Symbol: Ext1provided by RGD
Official Full Name: exostosin glycosyltransferase 1provided by RGD
Primary source: RGD:1587375
See related: Ensembl:ENSRNOG00000024886 AllianceGenome:RGD:1587375
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable UDP-glycosyltransferase activity and protein dimerization activity. Involved in brain development. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Orthologous to human EXT1 (exostosin glycosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Lung (RPKM 158.4), Heart (RPKM 147.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 7q31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	7	NC_086025.1 (86265651..86544488, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	7	NC_051342.1 (84375769..84654625, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	7	NC_005106.4 (92605008..92881392, complement)

Chromosome 7 - NC_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ext1 gene is involved in heparan sulfate proteoglycans metabolism.
Title: Expression of Ext1, Ext2, and heparanase genes in brain of senescence-accelerated OXYS rats in early ontogenesis and during development of neurodegenerative changes.

Submit: New GeneRIF Correction

General gene information

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Markers

RH142054 (e-PCR)
- UniSTS:224044

EXT1 (e-PCR)
- UniSTS:504374

AW531028 (e-PCR)
- UniSTS:245065

ECD12225 (e-PCR)
- UniSTS:293258

RH138727 (e-PCR)
- UniSTS:220814

Ext1 (e-PCR), detects polymorphism
- UniSTS:143046

REN13326 (e-PCR)
- UniSTS:338126

REN13329 (e-PCR)
- UniSTS:338129

REN13331 (e-PCR)
- UniSTS:338131

ECD12830 (e-PCR)
- UniSTS:293862

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within BMP signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within antigen processing and presentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon guidance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect axon guidance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within basement membrane organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone resorption	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect brain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell fate commitment	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect cell morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect cell surface receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_positive_effect cell surface receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular component organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to fibroblast growth factor stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to virus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chondrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chondrocyte hypertrophy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chondrocyte proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chondroitin sulfate metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within collagen fibril organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cranial skeletal system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendrite self-avoidance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendritic cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within developmental growth involved in morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect embryonic morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic skeletal joint development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endochondral bone growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endochondral bone morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endochondral ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endoderm development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect endoderm development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelium development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fear response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect fibroblast growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fluid transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gastrulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect gastrulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glandular epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glomerular basement membrane development	ISO Inferred from Sequence Orthology more info
involved_in glycosaminoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair cycle process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart field specification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic stem cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic stem cell homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic stem cell migration to bone marrow	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heparin biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect heparin biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heparin metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hypersensitivity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within leukocyte tethering or rolling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within limb joint morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lymphocyte adhesion to endothelial cell of high endothelial venule	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lymphocyte migration into lymphoid organs	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mesenchymal cell differentiation involved in bone development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mesenchyme development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mesoderm development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect mesoderm development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within motor behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural crest cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within olfactory bulb development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within optic nerve development	ISO Inferred from Sequence Orthology more info
involved_in ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ossification involved in bone maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within perichondral bone morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect podocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in polysaccharide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of blood pressure	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of tumor necrosis factor-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to growth factor	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to heparin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to leukemia inhibitory factor	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to light intensity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to virus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sebaceous gland development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smoothened signaling pathway involved in lung development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within social behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within stem cell division	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within stomach development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sulfation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_negative_effect sulfation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sweat gland development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tight junction organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vacuole organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vasodilation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vocalization behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within wound healing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
part_of catalytic complex	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: exostosin-1

Names: exostoses (multiple) 1

NP_001124012.1

EC 2.4.1.225

XP_038934698.1

EC 2.4.1.225

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001130540.1 → NP_001124012.1 exostosin-1

See identical proteins and their annotated locations for NP_001124012.1

Status: VALIDATED

Source sequence(s)

BC105839, BE126756, DV719494, FM064038, FM083888

UniProtKB/TrEMBL

A6HRF2, G3V901

Related

ENSRNOP00000031943.3, ENSRNOT00000037809.5

Conserved Domains (2) summary

pfam03016
Location:110 → 396

Exostosin; Exostosin family

pfam09258
Location:480 → 725

Glyco_transf_64; Glycosyl transferase family 64 domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086025.1 Reference GRCr8

Range

86265651..86544488 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039078770.2 → XP_038934698.1 exostosin-1 isoform X1

Conserved Domains (2) summary

pfam03016
Location:1 → 70

Exostosin; Exostosin family

pfam09258
Location:154 → 399

Glyco_transf_64; Glycosyl transferase family 64 domain